D56E (p.Asp56Glu) variant of CALCB (P10092)
D56E (p.Asp56Glu) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D56E (p.Asp56Glu) variant details
- p.Asp56Glu
- TOPMed rs1164167951
- gnomAD rs1164167951
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.05
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available